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Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome.

作者信息

Köhler A, Hain J, Müller U

机构信息

Institute of Human Genetics, Justus-Liebig-University, Giessen, Germany.

出版信息

Clin Genet. 1995 Mar;47(3):161-4. doi: 10.1111/j.1399-0004.1995.tb03951.x.

DOI:10.1111/j.1399-0004.1995.tb03951.x
PMID:7634541
Abstract

Five patients with type 1 lissencephaly, typical features of Miller-Dieker syndrome and apparently normal karyotypes were investigated for microdeletions in chromosome 17p13.3. Analysis of loci D17S5 and D17S379 by polymerase chain reaction and fluorescence in situ hybridization revealed a deletion in three cases. No deletion was observed in the remaining two cases. Given the almost identical clinical picture of the five patients, the great variation in the molecular findings argues against Miller-Dieker syndrome being a contiguous gene syndrome.

摘要

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引用本文的文献

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Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.
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Front Genet. 2018 Mar 23;9:80. doi: 10.3389/fgene.2018.00080. eCollection 2018.